GFI1B mutation causes a bleeding disorder with abnormal platelet function

Journal of Thrombosis and Haemostasis

Volumn 11, Issue 11, 2013, Pages 2039-2047

  Stevenson, W S ^a,b   Morel Kopp, M C ^a,b   Chen, Q ^a,b   Liang, H P ^b   Bromhead, C J ^c   Wright, S ^b   Turakulov, R ^d   Ng, A P ^c,e   Roberts, A W ^c,e   Bahlo, M ^c,e   Ward, C M ^a,b  

^a ROYAL NORTH SHORE HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^d Australian Genome Research Facility Ltd   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Blood platelet disorders; Genetic linkage; GFI1B protein; Human; Thrombocytopenia; Transcription factors

Indexed keywords

DNA; GFI1B PROTEIN; NUCLEOTIDE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; GFI1B PROTEIN, HUMAN; ONCOPROTEIN; REPRESSOR PROTEIN;

AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BIOLOGICAL ACTIVITY; BLEEDING DISORDER; CELL LINE; CHROMOSOME 9; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA BINDING; DNA STRUCTURE; ERYTHROCYTE ANISOPOIKILOCYTOSIS; ERYTHROCYTE DISORDER; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MEGAKARYOCYTE; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTE DISORDER; THROMBOCYTE DYSFUNCTION; THROMBOCYTE FUNCTION; THROMBOCYTOPENIA; ADULT; CYTOLOGY; DNA SEQUENCE; ERYTHROCYTE; FEMALE; GENETIC TRANSFECTION; GENETICS; MALE; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; BLOOD PLATELET DISORDERS; BLOOD PLATELETS; ERYTHROCYTES; FEMALE; FRAMESHIFT MUTATION; GENETIC LINKAGE; HUMANS; MALE; MEGAKARYOCYTES; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS; REPRESSOR PROTEINS; SEQUENCE ANALYSIS, DNA; TRANSFECTION; YOUNG ADULT;

EID: 84887514998     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/jth.12368     Document Type: Article

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